612337.1

Country

United Arab Emirates

HPO Terms

Neurodevelopmental delay; Specific learning disability; Global developmental delay; Abnormality of coordination
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_205768.3:c.593C>G1

Remarks

de novo mutation
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